Is DMD p.Arg943Cys (c.2827C>T) pathogenic?

DMD p.Arg943Cys (c.2827C>T) is classified Conflicting classifications of pathogenicity in DMD (ClinVar, Conflicting submitters, 11 submitters; last evaluated 2026-01-26). AlphaMissense: likely benign (0.1025); Ultra-rare (popmax 0.092%, mid); Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Arg943Cys (c.2827C>T)?

DMD p.Arg943Cys (c.2827C>T) is associated with Cardiovascular phenotype, cardiomyopathy, Becker muscular dystrophy (ClinVar).

How common is DMD p.Arg943Cys (c.2827C>T) in the general population?

DMD p.Arg943Cys (c.2827C>T) is ultra-rare (popmax 0.092%, mid) (gnomAD).

What do computational predictors say about DMD p.Arg943Cys (c.2827C>T)?

AlphaMissense predicts likely benign (score 0.1025) — an in-silico prediction, not a clinical call.

DMD p.Arg943Cys

c.2827C>T · rs199986217 · VCV94539

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 11 submitters

AlphaMissense

likely benign

0.1025 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.092%, mid)

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
AlphaMissense	0.1025	likely benign
REVEL	0.304	indeterminate
Splicing
SpliceAI	Δ0.27	acceptor gain · deltas
Constraint at this position
Conservation	phyloP 8.4	GERP 2, phastCons 1
Regional constraint	o/e 1.36	unconstrained · MANE · 1,863 kb · p 2.4e-62 · regional, not allelic
Overall
CADD	26.3	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.092% Middle Eastern · 4/4,348 alleles

Filtering AF 0.0314% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0189%

Overall 0.0188% 227/1,208,551 alleles · ultra-rare

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.092%	1,087
European (non-Finnish)	0.022%	4,541
Remaining individualsnot grpmax-eligible	0.0189%	5,284
South Asian	0.0159%	6,303
Admixed American	0.011%	9,117
African / African-American	0.00351%	28,479
East Asian	0.00297%	33,718

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: DMD
Protein: p.Arg943Cys
Coding: c.2827C>T
MANE Select: NM_004006
dbSNP: rs199986217
Type: single nucleotide variant
Location: chrX:32472286 (GRCh38)

Full DMD gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: cardiomyopathy Becker muscular dystrophy dilated cardiomyopathy 3B Duchenne muscular dystrophy

Similar variants

DMD p.Arg943His Conflicting classifications of pathogenicity ★ ⚠ same residue
DMD p.Arg943Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
DMD p.Arg943= Likely benign ★ same residue
DMD p.Arg943Pro Uncertain significance ★ ⚠ same residue
DMD c.10086+1G>A Pathogenic ★★ same condition
DMD c.10086+1G>T Pathogenic ★★ same condition
DMD c.10086+2T>C Pathogenic ★★ same condition
DMD c.10087-2A>G Pathogenic/Likely pathogenic ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/dmd-p-arg943cys (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown